The sequence variant c.2006C>T (dbSNP rs75029862) in exon 16 changes proline in amino acid position 669 to leucine (p.Pro669Leu). It has a minor allele frequency of 0.01-0.06 in different populations, and is considered a common, benign SNP. Amino acid residue 669 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Leu669 is active and processed correctly. |
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